Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Orc4'

332829

Institutional Source

Beutler Lab

Gene Symbol

Orc4

Ensembl Gene

ENSMUSG00000026761

Gene Name

origin recognition complex, subunit 4

Synonyms

mMmORC4, Orc4, Orc4l, Orc4P

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48902824-48950277 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48937489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 31 (P31S)

Ref Sequence

ENSEMBL: ENSMUSP00000088497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028098] [ENSMUST00000090976] [ENSMUST00000123271] [ENSMUST00000142851] [ENSMUST00000149679]

AlphaFold

O88708

Predicted Effect

probably benign
Transcript: ENSMUST00000028098
AA Change: P31S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028098
Gene: ENSMUSG00000026761
AA Change: P31S

Domain	Start	End	E-Value	Type
AAA	57	199	2.75e-5	SMART
Pfam:ORC4_C	225	413	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090976
AA Change: P31S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000088497
Gene: ENSMUSG00000026761
AA Change: P31S

Domain	Start	End	E-Value	Type
Pfam:AAA_16	34	138	3.3e-14	PFAM
Pfam:KAP_NTPase	38	123	2.9e-7	PFAM
Pfam:Arch_ATPase	43	130	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123271
AA Change: P31S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141441

Predicted Effect

probably benign
Transcript: ENSMUST00000142851
AA Change: P31S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119274
Gene: ENSMUSG00000026761
AA Change: P31S

Domain	Start	End	E-Value	Type
AAA	57	199	2.75e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149679
AA Change: P31S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121114
Gene: ENSMUSG00000026761
AA Change: P31S

Domain	Start	End	E-Value	Type
SCOP:d1jbka_	43	73	2e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154784

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Orc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Orc4	APN	2	48910269	missense	probably benign
IGL01523:Orc4	APN	2	48917224	missense	probably benign	0.00
IGL02546:Orc4	APN	2	48917284	missense	probably null	0.02
IGL02592:Orc4	APN	2	48933078	critical splice donor site	probably null
R0277:Orc4	UTSW	2	48937467	missense	possibly damaging	0.78
R0323:Orc4	UTSW	2	48937467	missense	possibly damaging	0.78
R0554:Orc4	UTSW	2	48905421	missense	probably benign	0.01
R0573:Orc4	UTSW	2	48917273	missense	probably benign	0.05
R0788:Orc4	UTSW	2	48937467	missense	possibly damaging	0.78
R0893:Orc4	UTSW	2	48932610	unclassified	probably benign
R1112:Orc4	UTSW	2	48933572	missense	probably damaging	0.97
R1466:Orc4	UTSW	2	48909494	missense	possibly damaging	0.91
R1466:Orc4	UTSW	2	48909494	missense	possibly damaging	0.91
R1584:Orc4	UTSW	2	48909494	missense	possibly damaging	0.91
R1868:Orc4	UTSW	2	48910293	missense	probably benign	0.07
R2342:Orc4	UTSW	2	48927140	missense	probably damaging	0.99
R2370:Orc4	UTSW	2	48933099	missense	probably benign	0.01
R3085:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3086:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3122:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3404:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R3551:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4199:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4518:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4519:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4521:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4523:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4529:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4532:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4533:Orc4	UTSW	2	48937489	missense	probably benign	0.01
R4652:Orc4	UTSW	2	48936750	unclassified	probably benign
R4845:Orc4	UTSW	2	48909466	missense	probably benign	0.07
R5893:Orc4	UTSW	2	48905547	nonsense	probably null
R6708:Orc4	UTSW	2	48937493	missense	probably benign	0.00
R6972:Orc4	UTSW	2	48927184	missense	probably benign	0.03
R7572:Orc4	UTSW	2	48910236	missense	probably benign	0.01
R7938:Orc4	UTSW	2	48910191	missense	possibly damaging	0.79
R9267:Orc4	UTSW	2	48937522	nonsense	probably null
R9463:Orc4	UTSW	2	48936771	critical splice donor site	probably null
R9472:Orc4	UTSW	2	48905551	missense	probably benign	0.03
R9480:Orc4	UTSW	2	48905551	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGCTACCAGGTGTTAAGTACCAG -3'
(R):5'- TTCTGCCATTCACTGACGTG -3'

Sequencing Primer
(F):5'- CTACCAGGTGTTAAGTACCAGAATTC -3'
(R):5'- GACGTGACATCTCATTATTTACCTG -3'

Posted On

2015-08-18